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Browsing by UP Author "Kabahuma, Rosemary Ida"

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Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals

Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Pepper, Michael Sean; Liu, Xue-Zhong (Wiley Open Access, 2022-10)

BACKGROUND : DFNB28, a recessively inherited nonsyndromic form of deafness in humans, is caused by mutations in the TRIOBP gene (MIM #609761) on chromosome 22q13. Its protein TRIOBP helps to tightly bundle F-actin filaments, ...
The genetic basis of deafness in populations of African descent

Rudman, Jason R.; Kabahuma, Rosemary Ida; Bressler, Sara E.; Feng, Yong; Blanton, Susan H.; Yan, Denise; Liu, Xue-Zhong (Elsevier, 2017-06)

Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction ...
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Yan, Denise; Tekin, Demet; Bademci, Guney; Foster II, Joseph; Cengiz, F. Basak; Kannan‑Sundhari, Abhiraami; Guo, Shengru; Mittal, Rahul; Zou, Bing; Grati, Mhamed; Kabahuma, Rosemary Ida; Kameswaran, Mohan; Lasisi, Taye J.; Adedeji, Waheed A.; Lasisi, Akeem O.; Menendez, Ibis; Herrera, Marianna; Carranza, Claudia; Maroofian, Reza; Crosby, Andrew H.; Bensaid, Mariem; Masmoudi, Saber; Behnam, Mahdiyeh; Mojarrad, Majid; Feng, Yong; Duman, Duygu; Mawla, Alex M.; Nord, Alex S.; Blanton, Susan H.; Liu, Xue Z.; Tekin, Mustafa (Springer, 2016-08)

Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is ...
Spectrum of MYO7A mutations in an indigenous South African population further elucidates the nonsyndromic autosomal recessive phenotype of DFNB2 to include both homozygous and compound heterozygous mutations

Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Blanton, Susan Halloran; Pepper, Michael Sean; Liu, Xue Zhong (MDPI, 2021-02-15)

MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 ...

Browsing by UP Author "Kabahuma, Rosemary Ida"

Browsing by UP Author "Kabahuma, Rosemary Ida"

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